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AMIGO1 adhesion molecule with Ig like domain 1 [ Homo sapiens (human) ]

Gene ID: 57463, updated on 14-Nov-2024

Summary

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Official Symbol
AMIGO1provided by HGNC
Official Full Name
adhesion molecule with Ig like domain 1provided by HGNC
Primary source
HGNC:HGNC:20824
See related
Ensembl:ENSG00000181754 MIM:615689; AllianceGenome:HGNC:20824
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALI2; AMIGO; AMIGO-1
Summary
Predicted to enable potassium channel regulator activity. Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and nervous system development. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in dendrite; neuronal cell body membrane; and voltage-gated potassium channel complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 9.3), adrenal (RPKM 6.7) and 24 other tissues See more
Orthologs
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Genomic context

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See AMIGO1 in Genome Data Viewer
Location:
1p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109504178..109509727, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109536945..109542494, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110046800..110052349, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110025999-110026616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110026617-110027236 Neighboring gene ataxin 7 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110036856-110037356 Neighboring gene cytochrome b561 family member D1 Neighboring gene Sharpr-MPRA regulatory region 8825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110042111-110042610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1155 Neighboring gene uncharacterized LOC105378893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1443 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110073289-110073457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110082007-110082508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110082509-110083008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110086313-110086851 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110089013-110089249 Neighboring gene G protein-coupled receptor 61

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking. Maverick EE, et al. J Cell Sci, 2021 Jun 15. PMID 34137443, Free PMC Article
  2. AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes. Peltola MA, et al. Schizophr Bull, 2016 Jan. PMID 26240432, Free PMC Article
  3. AMIGO, a transmembrane protein implicated in axon tract development, defines a novel protein family with leucine-rich repeats. Kuja-Panula J, et al. J Cell Biol, 2003 Mar 17. PMID 12629050, Free PMC Article
  4. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
  5. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AMIGO1 is identified as a candidate gene for human schizophrenia and related psychiatric disorders.
    Title: AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables potassium channel regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in axonal fasciculation ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in axonogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to L-glutamate IEA
Inferred from Electronic Annotation
more info
  
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in myelination ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in pericellular basket IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
amphoterin-induced protein 1
Names
alivin-2
amphoterin-induced gene and ORF

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020703.4 → NP_065754.2  amphoterin-induced protein 1 precursor

    See identical proteins and their annotated locations for NP_065754.2

    Status: VALIDATED

    Source sequence(s)
    AK295678, AL355145, HY122839
    Consensus CDS
    CCDS30795.1
    UniProtKB/Swiss-Prot
    B4DIM3, Q86WK6, Q8IW71, Q9ULQ7
    Related
    ENSP00000358880.4, ENST00000369864.5
    Conserved Domains (3) summary
    smart00409
    Location:279 → 358
    IG; Immunoglobulin
    COG4886
    Location:66 → 242
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:66 → 87
    LRR_RI; leucine-rich repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    109504178..109509727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541812.3 → XP_011540114.1  amphoterin-induced protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011540114.1

    UniProtKB/Swiss-Prot
    B4DIM3, Q86WK6, Q8IW71, Q9ULQ7
    Related
    ENSP00000358878.1, ENST00000369862.1
    Conserved Domains (3) summary
    smart00409
    Location:279 → 358
    IG; Immunoglobulin
    COG4886
    Location:66 → 242
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:66 → 87
    LRR_RI; leucine-rich repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    109536945..109542494 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337816.1 → XP_054193791.1  amphoterin-induced protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DIM3, Q86WK6, Q8IW71, Q9ULQ7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86WK6.1 GenPept UniProtKB/Swiss-Prot:Q86WK6

Gene LinkOut

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